Chap 28 Key Concepts 3 Flashcards
How is the severity pattern for genetic metabolic diseases?
Earlier onset are more severe in the degree of damage and pace of illness
What is the inheritance pattern for neuronal storage disorders?
Autosomal recessive
What is the characteristic finding for neuronal storage disorders?
- Accumulation of material within neurons and evidence of neuronal death
What is the most common clinical presentation with neuronal storage disorders?
- Seizures and loss of cognitive function
What is the inheritance pattern for leukodystrophies?
Autosomal recessive
What is the mechanism of leukodystrophies?
Disruption of the synthesis or turnover of myelin components
What is the clinical presentation with leukodystrophies?
Motor dysfunctions- spasticity, hypertonia or hypotonia, ataxia
What is the inheritance pattern for mitochondrial encephalomyopathies?
Pleiotropic involving neurons and tissues outside of the nervous system
What are the 2 most common vitamin deficiencies that cause neurologic disease?
Thiamine and B12 deficiency
What conditions involving metabolic demands cause injury to the CNS?
Hypoglycemia, loss of oxygen carrying capacity of hemoglobin with CO toxicity
What part of the brain is most likely injured form chronic alcohol exposure?
Anterior vermis of the cerebellum
How can tumors in the CNS arise?
- From cells of the coverings (meningiomas)
- From the brain (gliomas, neuronal tumors, choroid plexus tumors)
- From CNS cell populations (primary CNS lymphoma, germ cell tumors)
- From elsewhere in the body (metastases)
What region of the brain is specific to medulloblastomas?
Cerebellum
What region of the brain is specific to central neurocytomas?
Intraventricular location
What tumors are associated with the pediatric age group?
Medulloblastoma and pilocystic astrocytomas
